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Mitochondrial pseudogenes suggest repeated inter-species hybridization among direct human ancestors

Konstantin Popadin, Konstantin Gunbin, View ORCID ProfileLeonid Peshkin, Sofia Annis, Zoe Fleischmann, Genya Kraytsberg, Natalya Markuzon, Rebecca R. Ackermann, View ORCID ProfileKonstantin Khrapko
doi: https://doi.org/10.1101/134502
Konstantin Popadin
1University of Lausanne
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Konstantin Gunbin
2Novosibirsk State University
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Leonid Peshkin
3Harvard Medical School
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Sofia Annis
4Northeastern University
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Zoe Fleischmann
5Northeastern University
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Genya Kraytsberg
6Beth Israel Deaconess Medical Center, Harvard Medial School
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Natalya Markuzon
7Draper Laboratory
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Rebecca R. Ackermann
8University of Cape Town
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Konstantin Khrapko
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  • ORCID record for Konstantin Khrapko
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Abstract

The hypothesis that the evolution of humans involved hybridization between diverged species has been actively debated in recent years. We present novel evidence in support of this hypothesis: the analysis of nuclear pseudogenes of mtDNA (“NUMTs”). NUMTs are considered “mtDNA fossils”, as they preserve sequences of ancient mtDNA and thus carry unique information about ancestral populations. Our comparison of a NUMT sequence shared by humans, chimpanzees, and gorillas with their mtDNAs implies that, around the time of divergence between humans and chimpanzees, our evolutionary history involved the interbreeding of individuals whose mtDNA had diverged as much as ~4.5 Myr prior. This large divergence suggests a distant interspecies hybridization. Additionally, analysis of two other NUMTs suggests that such events occurred repeatedly. Our findings suggest a complex pattern of speciation in primate human ancestors and provide a potential explanation for the mosaic nature of fossil morphology found at the emergence of the hominin lineage.

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Posted October 19, 2017.
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Mitochondrial pseudogenes suggest repeated inter-species hybridization among direct human ancestors
Konstantin Popadin, Konstantin Gunbin, Leonid Peshkin, Sofia Annis, Zoe Fleischmann, Genya Kraytsberg, Natalya Markuzon, Rebecca R. Ackermann, Konstantin Khrapko
bioRxiv 134502; doi: https://doi.org/10.1101/134502
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Mitochondrial pseudogenes suggest repeated inter-species hybridization among direct human ancestors
Konstantin Popadin, Konstantin Gunbin, Leonid Peshkin, Sofia Annis, Zoe Fleischmann, Genya Kraytsberg, Natalya Markuzon, Rebecca R. Ackermann, Konstantin Khrapko
bioRxiv 134502; doi: https://doi.org/10.1101/134502

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